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Gene KIT
Variant N80S
Impact List missense
Protein Effect unknown
Gene Variant Descriptions KIT N80S lies within Ig-like C2-type domain 1 of the Kit protein (UniProt.org). N80S has not been characterized in the scientific literature and therefore, its effect on Kit protein function is unknown (PubMed, Apr 2023).
Associated Drug Resistance
Category Variants Paths

KIT mutant KIT N80S

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Transcript NM_000222.3
gDNA chr4:g.54695683A>G
cDNA c.239A>G
Protein p.N80S
Source Database RefSeq
Genome Build GRCh38/hg38
Transcript gDNA cDNA Protein Source Database Genome Build
XM_005265740.1 chr4:g.54695683A>G c.239A>G p.N80S RefSeq GRCh38/hg38
XM_017008179.1 chr4:g.54695683A>G c.239A>G p.N80S RefSeq GRCh38/hg38
XM_005265740 chr4:g.54695683A>G c.239A>G p.N80S RefSeq GRCh38/hg38
XM_005265742 chr4:g.54695683A>G c.239A>G p.N80S RefSeq GRCh38/hg38
NM_000222.2 chr4:g.54695683A>G c.239A>G p.N80S RefSeq GRCh38/hg38
NM_001385285.1 chr4:g.54695683A>G c.239A>G p.N80S RefSeq GRCh38/hg38
XM_005265741 chr4:g.54695683A>G c.239A>G p.N80S RefSeq GRCh38/hg38
NM_001385286.1 chr4:g.54695683A>G c.239A>G p.N80S RefSeq GRCh38/hg38
NM_001385288.1 chr4:g.54695683A>G c.239A>G p.N80S RefSeq GRCh38/hg38
XM_017008179 chr4:g.54695683A>G c.239A>G p.N80S RefSeq GRCh38/hg38
NM_001093772.1 chr4:g.54695683A>G c.239A>G p.N80S RefSeq GRCh38/hg38
NM_001385284.1 chr4:g.54695683A>G c.239A>G p.N80S RefSeq GRCh38/hg38
NM_001385292.1 chr4:g.54695683A>G c.239A>G p.N80S RefSeq GRCh38/hg38
NM_000222.3 chr4:g.54695683A>G c.239A>G p.N80S RefSeq GRCh38/hg38
XM_017008180 chr4:g.54695683A>G c.239A>G p.N80S RefSeq GRCh38/hg38
XM_017008180.1 chr4:g.54695683A>G c.239A>G p.N80S RefSeq GRCh38/hg38
XM_005265742.3 chr4:g.54695683A>G c.239A>G p.N80S RefSeq GRCh38/hg38
NM_001385290.1 chr4:g.54695683A>G c.239A>G p.N80S RefSeq GRCh38/hg38
NM_001093772 chr4:g.54695683A>G c.239A>G p.N80S RefSeq GRCh38/hg38
NM_001093772.2 chr4:g.54695683A>G c.239A>G p.N80S RefSeq GRCh38/hg38
XM_005265741.1 chr4:g.54695683A>G c.239A>G p.N80S RefSeq GRCh38/hg38
XM_017008178 chr4:g.54695683A>G c.239A>G p.N80S RefSeq GRCh38/hg38
XM_017008178.1 chr4:g.54695683A>G c.239A>G p.N80S RefSeq GRCh38/hg38
NM_000222 chr4:g.54695683A>G c.239A>G p.N80S RefSeq GRCh38/hg38

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  • Separate multiple filter terms with a space. Any order may be used (i. e. a b c and c b a are equivalent )
  • Filtering will only apply to rows that are already loaded on the page. Filtering has no impact on query parameters.
  • Use quotes to match on a longer phrase with spaces (i.e. "mtor c1483f")

Sorting

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Molecular Profile Indication/Tumor Type Response Type Therapy Name Approval Status Evidence Type Efficacy Evidence References